MRPL18
gene geneOn this page
Also known as HSPC071uL18m
Summary
MRPL18 (mitochondrial ribosomal protein L18, HGNC:14477) is a protein-coding gene on chromosome 6q25.3, encoding Large ribosomal subunit protein uL18m (Q9H0U6). Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. It is a selective cancer dependency (DepMap: 52.2% of cell lines).
This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16.
Source: NCBI Gene 29074 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 38 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 52.2% of screened cell lines
- MANE Select transcript:
NM_014161
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14477 |
| Approved symbol | MRPL18 |
| Name | mitochondrial ribosomal protein L18 |
| Location | 6q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC071, uL18m |
| Ensembl gene | ENSG00000112110 |
| Ensembl biotype | protein_coding |
| OMIM | 611831 |
| Entrez | 29074 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000367034, ENST00000476826, ENST00000479638, ENST00000480842, ENST00000857674, ENST00000953331
RefSeq mRNA: 2 — MANE Select: NM_014161
NM_001318817, NM_014161
CCDS: CCDS5270
Canonical transcript exons
ENST00000367034 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001443299 | 159790467 | 159790639 |
| ENSE00003649410 | 159798052 | 159798429 |
| ENSE00003652170 | 159797287 | 159797518 |
| ENSE00003657521 | 159790940 | 159791126 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 99.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.7445 / max 709.1135, expressed in 1823 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 70997 | 41.3143 | 1820 |
| 70993 | 8.7788 | 1779 |
| 70995 | 3.9010 | 1315 |
| 70996 | 2.0786 | 1307 |
| 70990 | 2.0431 | 1028 |
| 70991 | 1.2219 | 759 |
| 70992 | 1.0676 | 789 |
| 70994 | 0.3390 | 149 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 99.33 | gold quality |
| secondary oocyte | CL:0000655 | 98.63 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.61 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.50 | gold quality |
| adult organism | UBERON:0007023 | 96.39 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.32 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.20 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.11 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.11 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.98 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.93 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.87 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.84 | gold quality |
| type B pancreatic cell | CL:0000169 | 95.83 | gold quality |
| rectum | UBERON:0001052 | 95.65 | gold quality |
| amygdala | UBERON:0001876 | 95.65 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.65 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.64 | gold quality |
| gingiva | UBERON:0001828 | 95.61 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.57 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.55 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.55 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.51 | gold quality |
| popliteal artery | UBERON:0002250 | 95.47 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.46 | gold quality |
| tibial artery | UBERON:0007610 | 95.46 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.45 | gold quality |
| right coronary artery | UBERON:0001625 | 95.42 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.41 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.38 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10137 | no | 668.16 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting MRPL18, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-3660 | 99.68 | 67.33 | 1149 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-324-3P | 99.26 | 66.31 | 1034 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-1537-5P | 98.70 | 68.33 | 999 |
| HSA-MIR-532-5P | 98.43 | 67.53 | 760 |
| HSA-MIR-6509-3P | 98.32 | 67.33 | 1343 |
| HSA-MIR-4772-3P | 98.04 | 65.60 | 1203 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 52.2% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl18 | ENSDARG00000060199 |
| mus_musculus | Mrpl18 | ENSMUSG00000057388 |
| rattus_norvegicus | Mrpl18 | ENSRNOG00000014582 |
| drosophila_melanogaster | mRpL18 | FBGN0026741 |
| caenorhabditis_elegans | WBGENE00017044 |
Protein
Protein identifiers
Large ribosomal subunit protein uL18m — Q9H0U6 (reviewed: Q9H0U6)
Alternative names: 39S ribosomal protein L18, mitochondrial
All UniProt accessions (1): Q9H0U6
UniProt curated annotations — full annotation on UniProt →
Function. Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA.
Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
Subcellular location. Mitochondrion.
Similarity. Belongs to the universal ribosomal protein uL18 family.
RefSeq proteins (2): NP_001305746, NP_054880* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005484 | Ribosomal_uL18_bac/plant/anim | Family |
| IPR036967 | Ribosomal_uS11_sf | Homologous_superfamily |
| IPR057268 | Ribosomal_L18 | Family |
Pfam: PF00861
UniProt features (19 total): strand 8, helix 7, transit peptide 1, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
75 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 8QU5 | ELECTRON MICROSCOPY | 2.42 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7PO4 | ELECTRON MICROSCOPY | 2.56 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7OF6 | ELECTRON MICROSCOPY | 2.6 |
| 9CN3 | ELECTRON MICROSCOPY | 2.62 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 7OF2 | ELECTRON MICROSCOPY | 2.7 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 7OF4 | ELECTRON MICROSCOPY | 2.7 |
| 8QU1 | ELECTRON MICROSCOPY | 2.74 |
| 9PR4 | ELECTRON MICROSCOPY | 2.77 |
| 9PRA | ELECTRON MICROSCOPY | 2.83 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7QH7 | ELECTRON MICROSCOPY | 2.89 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8QSJ | ELECTRON MICROSCOPY | 3 |
| 9UWH | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0U6-F1 | 86.86 | 0.75 |
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-3371453 | Regulation of HSF1-mediated heat shock response |
| R-HSA-3371511 | HSF1 activation |
| R-HSA-3371568 | Attenuation phase |
| R-HSA-3371571 | HSF1-dependent transactivation |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 185 (showing top):
MODULE_255, PAL_PRMT5_TARGETS_UP, GOBP_MITOCHONDRIAL_TRANSLATION, MODULE_317, GOLDRATH_ANTIGEN_RESPONSE, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, chr6q25, E2F_Q3, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, E2F1_Q3
GO Biological Process (3): translation (GO:0006412), mitochondrial translation (GO:0032543), rRNA import into mitochondrion (GO:0035928)
GO Molecular Function (4): structural constituent of ribosome (GO:0003735), 5S rRNA binding (GO:0008097), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (7): obsolete extracellular space (GO:0005615), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Cellular response to heat stress | 3 |
| HSF1-dependent transactivation | 1 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| RNA import into mitochondrion | 1 |
| rRNA transport | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| rRNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1170 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL18 | TST | Q16762 | 580 |
| MRPL18 | MRPS25 | P82663 | 523 |
| MRPL18 | MRPL44 | Q9H9J2 | 493 |
| MRPL18 | FAM151B | Q6UXP7 | 474 |
| MRPL18 | ACTN3 | Q08043 | 423 |
| MRPL18 | GUCY1A1 | Q02108 | 396 |
| MRPL18 | GTF3A | Q92664 | 390 |
| MRPL18 | TIMM10 | P62072 | 378 |
| MRPL18 | CABP7 | Q86V35 | 364 |
| MRPL18 | RPS9 | P46781 | 352 |
| MRPL18 | MYL6 | P16475 | 329 |
| MRPL18 | TMEM243 | Q9BU79 | 328 |
| MRPL18 | MRPS10 | P82664 | 325 |
| MRPL18 | CCS | O14618 | 316 |
| MRPL18 | RPL5 | P46777 | 305 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPL18 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.800 |
| MRPL38 | MRPL18 | psi-mi:“MI:0915”(physical association) | 0.800 |
| RPS6 | RPL4 | psi-mi:“MI:0914”(association) | 0.710 |
| YBX1 | SSB | psi-mi:“MI:0914”(association) | 0.710 |
| MALSU1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL4 | RPS20 | psi-mi:“MI:0914”(association) | 0.620 |
| ERH | SNRPD3 | psi-mi:“MI:0914”(association) | 0.580 |
| MRPL18 | LAPTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAPTM5 | MRPL18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL4 | RPL5 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL10 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL38 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL41 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL23 | BCKDHA | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL27 | MRPL33 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Ybx1 | MRPS18B | psi-mi:“MI:0915”(physical association) | 0.400 |
| Sgo2a | GPA33 | psi-mi:“MI:0914”(association) | 0.350 |
| APC | BBX | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (283): MRPL18 (Affinity Capture-RNA), MRPL18 (Affinity Capture-RNA), MRPL18 (Affinity Capture-MS), MRPL18 (Affinity Capture-MS), MRPL18 (Affinity Capture-MS), MRPL18 (Affinity Capture-MS), MRPL18 (Affinity Capture-MS), MRPL18 (Affinity Capture-MS), MRPL18 (Affinity Capture-MS), ICT1 (Co-fractionation), MRPL13 (Co-fractionation), MRPL17 (Co-fractionation), MRPL18 (Co-fractionation), MRPL18 (Co-fractionation), MRPL18 (Co-fractionation)
ESM2 similar proteins: A2VD95, A5WUX7, B5XAM2, D2HD32, E7EXT2, O75879, P82673, Q08CK1, Q08DT6, Q0V9C9, Q12322, Q13405, Q14197, Q32LB9, Q3T116, Q3UFY8, Q3ZBR7, Q498P2, Q4R380, Q4R5K7, Q5EA71, Q5I0K8, Q5R8X0, Q5U2R4, Q5XIC2, Q5ZI74, Q640B4, Q6PI78, Q7JUX9, Q7SXA9, Q80VP5, Q80X85, Q8BJZ4, Q8K126, Q8K2Y7, Q8R035, Q8VCE1, Q8VEG4, Q9CQ40, Q9H0U6
Diamond homologs: P34378, Q3ZBR7, Q9CQL5, Q9H0U6, A0KRP0, A0Q4J9, A1RED0, A1S234, A1WVA6, A3DA56, A4IZR8, A4WFB2, A4XLR4, A4YBW7, A5IM99, A6WHU4, A7HM36, A7N9U1, A8F4S7, A8GKI1, A9IW06, A9KJH8, A9KWB8, B0JHY8, B1LBM4, B2ITP0, B2SDW9, B4F1K0, B5FG25, B5XNA9, B5YDV9, B8E1E9, B8EBI9, B8F6Q5, B9K8A2, C4Z2U6, C4ZBT4, C5CGI6, P46182, P52863
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL18 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 116 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 31 | 48.2× | 1e-43 |
| Mitochondrial translation initiation | 28 | 45.0× | 2e-38 |
| Mitochondrial translation elongation | 28 | 45.0× | 2e-38 |
| Mitochondrial translation | 25 | 43.5× | 7e-34 |
| Mitochondrial translation termination | 28 | 38.9× | 1e-36 |
| Translation | 29 | 22.8× | 9e-31 |
| Peptide chain elongation | 9 | 14.5× | 4e-07 |
| Viral mRNA Translation | 9 | 14.5× | 4e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 29 | 50.9× | 3e-40 |
| translation | 22 | 22.8× | 7e-22 |
| cytoplasmic translation | 9 | 16.8× | 4e-07 |
| RNA splicing | 7 | 6.2× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 563245 | GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 | Pathogenic |
SpliceAI
584 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:159790773:G:GT | donor_gain | 1.0000 |
| 6:159791077:A:T | donor_gain | 1.0000 |
| 6:159798036:T:A | acceptor_gain | 1.0000 |
| 6:159798044:A:AG | acceptor_gain | 1.0000 |
| 6:159798045:A:G | acceptor_gain | 1.0000 |
| 6:159790600:T:TA | donor_gain | 0.9900 |
| 6:159790777:T:G | donor_gain | 0.9900 |
| 6:159790811:GGCA:G | donor_gain | 0.9900 |
| 6:159790812:GCA:G | donor_gain | 0.9900 |
| 6:159791076:G:GT | donor_gain | 0.9900 |
| 6:159791124:CAGGT:C | donor_loss | 0.9900 |
| 6:159791126:GG:G | donor_loss | 0.9900 |
| 6:159791127:GTA:G | donor_loss | 0.9900 |
| 6:159791128:T:G | donor_loss | 0.9900 |
| 6:159797370:G:GG | donor_gain | 0.9900 |
| 6:159790561:C:T | donor_gain | 0.9800 |
| 6:159790615:T:TA | donor_gain | 0.9800 |
| 6:159790769:G:GG | donor_gain | 0.9800 |
| 6:159790782:G:GT | donor_gain | 0.9800 |
| 6:159790938:AG:A | acceptor_gain | 0.9800 |
| 6:159790939:GG:G | acceptor_gain | 0.9800 |
| 6:159791111:G:GG | donor_gain | 0.9800 |
| 6:159794885:C:G | donor_gain | 0.9800 |
| 6:159797344:C:T | donor_gain | 0.9800 |
| 6:159798050:A:AG | acceptor_gain | 0.9800 |
| 6:159798051:G:GG | acceptor_gain | 0.9800 |
| 6:159790933:T:A | acceptor_gain | 0.9700 |
| 6:159790937:CAGG:C | acceptor_gain | 0.9700 |
| 6:159790938:AGGG:A | acceptor_gain | 0.9700 |
| 6:159797374:G:GG | donor_gain | 0.9700 |
AlphaMissense
1153 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:159791116:T:C | F77L | 0.982 |
| 6:159791118:C:A | F77L | 0.982 |
| 6:159791118:C:G | F77L | 0.982 |
| 6:159797462:G:C | A139P | 0.977 |
| 6:159797453:T:C | C136R | 0.969 |
| 6:159797363:T:C | S106P | 0.960 |
| 6:159791029:T:C | F48L | 0.959 |
| 6:159791031:C:A | F48L | 0.959 |
| 6:159791031:C:G | F48L | 0.959 |
| 6:159791043:C:A | N52K | 0.958 |
| 6:159791043:C:G | N52K | 0.958 |
| 6:159797361:C:A | A105D | 0.955 |
| 6:159797455:C:G | C136W | 0.954 |
| 6:159797452:A:C | R135S | 0.951 |
| 6:159797452:A:T | R135S | 0.951 |
| 6:159791052:C:A | N55K | 0.950 |
| 6:159791052:C:G | N55K | 0.950 |
| 6:159797355:T:A | V103D | 0.950 |
| 6:159791079:A:C | K64N | 0.948 |
| 6:159791079:A:T | K64N | 0.948 |
| 6:159791037:C:A | N50K | 0.947 |
| 6:159791037:C:G | N50K | 0.947 |
| 6:159797433:G:A | G129E | 0.943 |
| 6:159797367:C:T | T107I | 0.936 |
| 6:159797289:T:C | L81S | 0.932 |
| 6:159791091:G:C | W68C | 0.931 |
| 6:159791091:G:T | W68C | 0.931 |
| 6:159797451:G:C | R135T | 0.931 |
| 6:159791078:A:T | K64I | 0.929 |
| 6:159797469:T:C | I141T | 0.929 |
dbSNP variants (sampled 300 via entrez): RS1000015394 (6:159794782 G>A), RS1000518769 (6:159789892 G>GT), RS1000636122 (6:159796127 A>T), RS1000860197 (6:159790878 G>C), RS1001093275 (6:159796033 C>A), RS1001913909 (6:159791892 A>C,G), RS1001977996 (6:159789687 A>C), RS1002263104 (6:159792179 A>G), RS1002693876 (6:159789081 G>A), RS1002745965 (6:159798571 G>GT), RS1002745988 (6:159788970 G>A,C,T), RS1002972563 (6:159793565 T>C), RS1003311491 (6:159793415 T>C), RS1003576935 (6:159793234 T>C), RS1003654242 (6:159788897 G>A)
Disease associations
OMIM: gene MIM:611831 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, increases expression | 3 |
| Tobacco Smoke Pollution | increases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| beta-methylcholine | affects expression | 1 |
| celastrol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| gedunin | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| 2-amino-7-(4-fluoro-2-(6-methoxypyridin-2-yl)phenyl)-4-methyl-7,8-dihydropyrido(4,3-d)pyrimidin-5(6H)-one | increases activity, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Bilirubin | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ketoconazole | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.